Isifo sikaHuntington siyingozi engozini

Imibhalo yezokwelapha inikeza incazelo eyinkimbinkimbi kakhulu yesifo, esibizwa ngokuthi yisifo sikaHuntington. Ukuze uqonde imvelaphi kanye nezici zalesi sifo esibi, kubalulekile ukuqala ukuqonda ukuthi yiliphi igama elisetshenziselwa incazelo yalo.

Lesi sifo siwufa, i-autosomal ephezulu. Lokhu kusho ukuthi lesi sifo sithathwa ngokwezakhi zofuzo futhi sizuzwa njengefa kunoma imuphi umzali okungenani isakhi esisodwa esisithintekayo. Isifo sezifo phakathi kwabafana namantombazane kuyafana.

Isifo sikaHuntington yisifo esingapheliyo esiqhubekayo. Ayiphathwa, ikhula kancane kancane, ikhulisa njalo izimpawu, ngezinye izikhathi iphenduka isiteji sokukhukhumeza. Lesi sifo sihlale sihambisana nokuphazamiseka kwe-psyche, ukuphazamiseka kwe- extrapyramidal ( ukulimala kwezimoto).

I-pathogenesis yalesi sifo iye yafundiswa kabi kakhulu. Kodwa-ke, kwaziwa ukuthi kubantu abanokugula ngokuvamile kuvame ukungabi khona kwe- GABA (i-aminobutyric acid, okuyinto engezona ebaluleke kakhulu ye-neurotransmitter engavimbelekile) emangqamuzaneni obuchopho. Ngesikhathi esifanayo, emangqamuzaneni amnyama, inani lensimbi liyakwanda, kukhona ukwephulwa okubukhali kwe-dopamine metabolism. Abanye ochwepheshe bakholelwa ukuthi isifo se -chorea sikaHuntington sibangelwa ukwandiswa kochungechunge lwe-amino acid. Ngenxa yalokho, amaprotheni "angalungile" ahlanganiswa okwenza izinqubo zezinto eziphilayo zibuchopho.

Kuqinisekiswe ukuthi amathuba okubeletha kwengane nalesi sifo emndenini wabathwali begesi ewonakele yi-1: 1 kungakhathaliseki ukuthi ingane isini.

Izimpawu zeChorea kaHuntington

Isifo sikaHuntington sivame ukubonakala sinezinsuku ezingama-30 (ngezinye izikhathi kamuva). Okokuqala, kukhona ukuphazamiseka kwengqondo: ukunciphisa ukuqonda, "ukunamathela" kumqondo owodwa. Abantu balahlekelwa ikhono lokuhlaziya isimo, bafinyelele iziphetho.

Kancane kancane, lezi zinkinga zikhula zibe yi-dementia ejulile. Esigulini i-psyche ibuhlungu kakhulu, ingqondo ihlambalaza, isipiliyoni sempilo siyanyamalala. Kancane kancane, izimfanelo zobuntu zesiguli ziyasulwa.

Ngokufanayo, ukuphazamiseka kwengqondo kukhula. Iziguli ezixilongwa "ngesifo sikaHuntington" ziqala ukwenza ngokungahambisani izinyathelo eziningi ezincane, kuyilapho zilahlekelwa ikhono lokwenza izenzo ezilula. Isibonelo, ukuhamba kuhambisana ne-grimacing, ukugoqa izandla, njll.

Isifo sikaHuntington asifani. Ngezinye izikhathi, ikakhulukazi ezinkathini zokuqala, iziguli zingaphazamisa ngisho ne-hyperkinesis enamandla ngokuzikhandla, futhi kwezinye izimo zingabonakaliswa kabi kakhulu. I-dementia ihamba njalo nalesi sifo, kodwa izinga lobukhulu bayo lingase lihluke. Ngezinye izikhathi iziguli, naphezu kokulimala okuqhubekayo, zigcina isikhathi eside kubuntu babo, futhi ngezinye izikhathi zilahlekelwa ngokushesha. Yini exhunywe nezici ezinjalo, imithi engakaqali.

Isifo sikaHuntington. Ukuxilongwa nokuphathwa

Ukuze uthole ukuxilongwa, iziguli kufanele zithole i-EEG, i-MRI. Ngokuvamile, lezi zifundo zirekhoda i-atrophy ye-cortex ye-cerebral kanye noshintsho ku-electroactivity yayo, futhi okuthiwa yi-indhala ye-thalamus.

Ukuze uhlolisise odokotela futhi uhlole uketshezi lwe-cerebrospinal, funda umlando wesifo emndenini. Namuhla, indlela yokuxilongwa kwangempela kwemindeni engozini isanda kakhulu. Iqukethe ekutadisheni ubuzwe be-lymphocytes ku-x-ray irradiation. Izingane ezizalwa emindenini lapho kuneziphathamandla zalesi sifo kufanele zibe ngamarekhodi ezokwelapha.

Isifo sikaHuntington asinakuphulukiswa. Ukusiza isimo sesiguli, izinkimbinkimbi ze-trifazine, i-reserpine, ezinye iziphikisi ze-dopamine nezokuthula zingahle zenziwe.